New research can help predict autism at earlier age: SickKids scientists
Published Monday, May 26, 2014 4:54PM EDT
Scientists at Toronto’s Hospital for Sick Children say they have unraveled the genetic code associated with autism, which will help detect the disorder at an earlier age.
In a study published Sunday in the online edition of Nature Genetics, SickKids researchers say they’ve been able to create a genetic formula to help clinicians identify genetic mutations that have the highest and lowest likelihood of causing autism spectrum disorders.
“We think this is a game-changer,” Stephen Scherer, a senior scientist at SickKids and lead author of the study, told CTV News Channel Monday.
“We don’t get to say this very often in science, but this is a significant discovery that changes the way we look at data that we’ve had for a long time.”
Scherer said the research has established a connection between autism and certain genes that are “turned on” in early fetal development.
More importantly, Scherer said, his team has been able to pinpoint small gene segments, called exons, that are activated in the early stages of brain development.
The team identified almost 4,000 such brain exons in more than 1,700 different genes.
Scherer said the discovery opens up “many options” for treatment of autism spectrum disorders. In the short term, the research will help with earlier diagnosis. In the long term, it can lead to new drug development, he said.
Suzanne Lanthier, an autism advocate whose son has autism, called the new study “a huge development.”
She told News Channel Monday that it shows the “incredible work” of Canadian researchers, which must continue to be funded.
Lanthier said she hopes the new findings will also lead to more funding for early intervention programs, which are crucial to families affected by autism.
“The earlier the better,” she said.
Lanthier said thousands of families across Canada are currently waiting for autism therapies and some children don’t get interventions until they are six or seven years old.
It is estimated that autism spectrum disorders affect one in 68 children.